KEGG   DISEASE: H00567Help
Entry
H00567                      Disease                                

Name
Caveolinopathies, including:
Limb-girdle muscular dystrophy (LGMD) 1C;
Rippling muscle disease (RMD);
Idiopathic hyperCKemia;
Distal myopathy with decreased caveolin 3;
Hypertrophic cardiomyopathy (HCM)
Description
Caveolinopathies are a group of muscle diseases and can lead to a broad spectrum of clinical phenotypes. The same mutation could lead to heterogeneous clinical phenotypes and muscle histopathological changes. They are usually inherited in an autosomal dominant pattern. Recently, an autosomal recessive inheritance was considered. The clinical findings that may suggest the diagnosis of a caveolinopathy are: onset usually in the first two decades, progressive, proximal, symmetrical muscle weakness, positive Gowers sign, calf hypertrophy, myalgia, cramps, and/or stiffness after exercise, muscle hyperirritability, etc.
Category
Musculoskeletal disease; Nervous system disease; Cardiovascular disease
BRITE hierarchy
Pathway
Endocytosis
Focal adhesion
Gene
CAV3 [HSA:859] [KO:K12959]
Other DBs
Reference
PMID:21496630 (description, gene)
  Authors
Gazzerro E, Bonetto A, Minetti C
  Title
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.
  Journal
Handb Clin Neurol 101:135-42 (2011)
Reference
PMID:18583131 (description, gene)
  Authors
Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, Hudson J, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V
  Title
Caveolinopathy--new mutations and additional symptoms.
  Journal
Neuromuscul Disord 18:572-8 (2008)
Reference
PMID:15580566 (description, gene)
  Authors
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C
  Title
Molecular and muscle pathology in a series of caveolinopathy patients.
  Journal
Hum Mutat 25:82-9 (2005)

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